ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1133+3G>A (rs374767819)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000394376 SCV000370341 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302307 SCV000370342 uncertain significance Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359640 SCV000370343 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262598 SCV000370344 uncertain significance Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301238 SCV000370345 uncertain significance short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Color Health, Inc RCV000777691 SCV000913624 likely benign Arrhythmia 2018-10-18 criteria provided, single submitter clinical testing
Invitae RCV000359640 SCV001420399 uncertain significance Long QT syndrome 2019-05-09 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the KCNQ1 gene. It does not directly change the encoded amino acid sequence of the KCNQ1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs374767819, ExAC 0.006%). This variant has not been reported in the literature in individuals with KCNQ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 304226). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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